A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3785



Internal ID15191826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49227319..49262690hg38UCSC Ensembl
OuterchrX:49083781..49119147hg19UCSC Ensembl
OuterchrX:48970725..49006091hg18UCSC Ensembl
OuterchrX:48840152..48875518hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg384374
hg194374
hg184374
hg174374
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6895
Supporting Variants
SamplesNA12878
Known GenesCACNA1F, CCDC22, FOXP3
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv3785
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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